Mutagenetix > Incidental Mutation

Incidental Mutation 'R5057:Por'

390916

Institutional Source

Beutler Lab

Gene Symbol

Por

Ensembl Gene

ENSMUSG00000005514

Gene Name

cytochrome p450 oxidoreductase

Synonyms

NADH cytochrome P450 oxydoreductase, 4933424M13Rik, CYPOR, CPR

MMRRC Submission

042647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5057 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135698894-135764180 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135759756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

Ref Sequence

ENSEMBL: ENSMUSP00000121531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005651] [ENSMUST00000043378] [ENSMUST00000122113] [ENSMUST00000127096] [ENSMUST00000153500] [ENSMUST00000153515]

AlphaFold

P37040

Predicted Effect

probably damaging
Transcript: ENSMUST00000005651
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
AA Change: D189G

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	1.6e-40	PFAM
Pfam:FAD_binding_1	274	493	1.3e-84	PFAM
Pfam:NAD_binding_1	530	642	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043378

SMART Domains

Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886

Domain	Start	End	E-Value	Type
Pfam:TMPIT	13	336	4.2e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122113
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
AA Change: D189G

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	2.6e-40	PFAM
Pfam:FAD_binding_1	274	493	5.1e-87	PFAM
Pfam:NAD_binding_1	530	605	3.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127096

SMART Domains

Protein: ENSMUSP00000119138
Gene: ENSMUSG00000005514

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
Pfam:Flavodoxin_1	127	168	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147515

Predicted Effect

probably damaging
Transcript: ENSMUST00000153500
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121531
Gene: ENSMUSG00000005514
AA Change: D189G

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	5.9e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153515
AA Change: D189G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121022
Gene: ENSMUSG00000005514
AA Change: D189G

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:Flavodoxin_1	82	219	3.2e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149684

Meta Mutation Damage Score

0.6244

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

97% (118/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the neural tube, eye, heart, and limbs, retarded growth, and prenatal lethality. Liver-specific knockouts exhibit increased liver weight, hepatic lipidosis, and impaired drug metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Acad12	T	A	5: 121,748,152 (GRCm39)	T89S	probably benign	Het
Adgb	A	G	10: 10,233,722 (GRCm39)	C1252R	probably benign	Het
Ankef1	A	G	2: 136,392,280 (GRCm39)		probably null	Het
Ankfy1	T	C	11: 72,650,745 (GRCm39)	L976P	probably damaging	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,831,613 (GRCm39)	T64S	probably benign	Het
Anxa6	T	G	11: 54,892,062 (GRCm39)	E298A	possibly damaging	Het
Apc2	A	G	10: 80,144,903 (GRCm39)	S605G	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Bptf	A	T	11: 106,973,354 (GRCm39)	F693L	probably damaging	Het
Cacng4	A	G	11: 107,685,197 (GRCm39)	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,257,092 (GRCm39)	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,528,976 (GRCm39)	T160K	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh22	C	A	2: 164,958,063 (GRCm39)	V635F	probably damaging	Het
Cenpe	G	T	3: 134,926,074 (GRCm39)	A243S	probably benign	Het
Cep295	A	T	9: 15,233,979 (GRCm39)	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,632,076 (GRCm39)	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Cntnap5a	C	T	1: 115,612,943 (GRCm39)	T26I	probably benign	Het
Col6a3	T	C	1: 90,743,852 (GRCm39)	K165R	possibly damaging	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Crybg1	T	A	10: 43,865,104 (GRCm39)	R1458*	probably null	Het
Cspp1	T	A	1: 10,145,186 (GRCm39)		probably benign	Het
Dhtkd1	A	G	2: 5,924,324 (GRCm39)	C430R	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dync2i1	A	T	12: 116,177,033 (GRCm39)	N856K	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Ephb3	A	G	16: 21,039,197 (GRCm39)	D351G	probably damaging	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fam161a	T	A	11: 22,970,397 (GRCm39)	C192S	probably damaging	Het
Fbn1	A	G	2: 125,308,615 (GRCm39)	V149A	probably benign	Het
Fbxw16	A	G	9: 109,270,232 (GRCm39)	S170P	probably damaging	Het
Fndc1	T	A	17: 7,990,802 (GRCm39)	R965*	probably null	Het
Frem2	T	C	3: 53,442,617 (GRCm39)	D2640G	probably benign	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm44501	A	G	17: 40,889,563 (GRCm39)	T26A	probably benign	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,215,369 (GRCm39)	R277Q	probably damaging	Het
Inmt	T	A	6: 55,151,883 (GRCm39)	H29L	probably benign	Het
Insrr	T	A	3: 87,722,572 (GRCm39)	C1265S	probably benign	Het
Kctd12	A	G	14: 103,219,045 (GRCm39)	F278L	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lag3	T	A	6: 124,882,318 (GRCm39)	I393F	possibly damaging	Het
Lama2	C	T	10: 27,040,982 (GRCm39)	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,665,005 (GRCm39)	G2275S	probably null	Het
Lrrc17	A	T	5: 21,780,307 (GRCm39)	H427L	probably benign	Het
Med13l	T	A	5: 118,856,558 (GRCm39)	S164T	probably damaging	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,208,155 (GRCm39)	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,460,073 (GRCm39)	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,125,130 (GRCm39)	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Nipal3	T	A	4: 135,194,167 (GRCm39)	I289F	probably damaging	Het
Nrg4	A	G	9: 55,189,880 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,804 (GRCm39)	I528F	probably damaging	Het
Or11h23	A	C	14: 50,948,669 (GRCm39)	N294T	probably damaging	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcnx2	T	C	8: 126,581,930 (GRCm39)	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,781,747 (GRCm39)	T766I	probably benign	Het
Polr3c	C	A	3: 96,619,373 (GRCm39)	L508F	probably damaging	Het
Potefam1	A	T	2: 111,055,766 (GRCm39)	F207I	probably benign	Het
Prim2	A	T	1: 33,669,441 (GRCm39)	L178*	probably null	Het
Prima1	C	A	12: 103,168,864 (GRCm39)		probably null	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rbm12	A	T	2: 155,938,806 (GRCm39)	C489S	probably benign	Het
Rpl10a	A	T	17: 28,549,607 (GRCm39)	H140L	probably benign	Het
Rpl7-ps8	A	T	15: 59,083,004 (GRCm39)		noncoding transcript	Het
Rtbdn	T	C	8: 85,681,638 (GRCm39)	F143S	probably damaging	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Setd5	A	G	6: 113,114,922 (GRCm39)	S848G	probably damaging	Het
Sez6	T	C	11: 77,863,979 (GRCm39)	V487A	probably damaging	Het
Shc2	G	A	10: 79,459,706 (GRCm39)	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,070,618 (GRCm39)	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,554,790 (GRCm39)	E78G	probably benign	Het
Slc8a3	A	G	12: 81,246,332 (GRCm39)	V900A	probably damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Spire2	G	A	8: 124,084,940 (GRCm39)	R260H	probably damaging	Het
Stk39	T	A	2: 68,051,292 (GRCm39)	I518F	probably damaging	Het
Tardbp	T	A	4: 148,703,813 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tll2	A	G	19: 41,105,705 (GRCm39)	V358A	probably benign	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,412,444 (GRCm39)	T5A	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim5	A	G	7: 103,914,630 (GRCm39)	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttn	T	A	2: 76,577,379 (GRCm39)	K22759*	probably null	Het
Ttn	C	A	2: 76,748,988 (GRCm39)	L4020F	probably benign	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Ube3b	T	C	5: 114,544,318 (GRCm39)	F572L	probably benign	Het
Ubr5	A	G	15: 38,004,353 (GRCm39)	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,466,320 (GRCm39)	R180S	probably damaging	Het
Ubtf	A	G	11: 102,197,913 (GRCm39)	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,320,487 (GRCm39)	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,510,330 (GRCm39)	V312I	possibly damaging	Het
Usp17ld	G	T	7: 102,899,655 (GRCm39)	H426N	probably benign	Het
Usp34	A	G	11: 23,408,086 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,567,575 (GRCm39)	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,445,207 (GRCm39)	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,589,819 (GRCm39)	I699T	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	Het

Other mutations in Por

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Por	APN	5	135,763,040 (GRCm39)	nonsense	probably null
IGL02126:Por	APN	5	135,744,829 (GRCm39)	missense	probably benign	0.00
R0201:Por	UTSW	5	135,760,032 (GRCm39)	missense	possibly damaging	0.94
R0355:Por	UTSW	5	135,761,438 (GRCm39)	missense	probably benign	0.38
R1755:Por	UTSW	5	135,758,339 (GRCm39)	nonsense	probably null
R1886:Por	UTSW	5	135,763,128 (GRCm39)	missense	probably damaging	1.00
R4057:Por	UTSW	5	135,760,428 (GRCm39)	missense	probably damaging	1.00
R4282:Por	UTSW	5	135,744,815 (GRCm39)	missense	possibly damaging	0.48
R4761:Por	UTSW	5	135,754,784 (GRCm39)	intron	probably benign
R5064:Por	UTSW	5	135,762,649 (GRCm39)	missense	probably benign	0.23
R5159:Por	UTSW	5	135,759,771 (GRCm39)	missense	probably benign	0.38
R5580:Por	UTSW	5	135,762,675 (GRCm39)	missense	probably damaging	0.98
R5895:Por	UTSW	5	135,744,838 (GRCm39)	missense	probably benign	0.03
R7225:Por	UTSW	5	135,761,441 (GRCm39)	missense	probably benign
R7422:Por	UTSW	5	135,763,773 (GRCm39)	missense	probably benign	0.06
R7461:Por	UTSW	5	135,758,358 (GRCm39)	missense	probably damaging	0.99
R7488:Por	UTSW	5	135,762,498 (GRCm39)	missense	probably benign	0.00
R7613:Por	UTSW	5	135,758,358 (GRCm39)	missense	probably damaging	0.99
R7649:Por	UTSW	5	135,763,359 (GRCm39)	missense	probably damaging	0.99
R7736:Por	UTSW	5	135,759,976 (GRCm39)	missense	probably damaging	0.98
R8696:Por	UTSW	5	135,763,112 (GRCm39)	missense	probably benign
R9086:Por	UTSW	5	135,744,918 (GRCm39)	critical splice donor site	probably null
R9398:Por	UTSW	5	135,754,597 (GRCm39)	missense	unknown
R9638:Por	UTSW	5	135,754,615 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTTCTCAGGGCCCATAGAG -3'
(R):5'- AACTGCTCCCTCCATGTGATG -3'

Sequencing Primer
(F):5'- TAGAGCCAGAGACTTCCAGTGC -3'
(R):5'- GTGATGAAATCCTCTTCCAAGCTGG -3'

Posted On

2016-06-06